AI Article Synopsis
- Concentric retinitis pigmentosa (RP) is a rare form of retinal degeneration where damage is mainly in the peripheral vision, and its characteristics are not well understood.
- A study of 14 patients with concentric RP revealed they had significantly better visual acuity and preserved retinal structures compared to age-matched patients with typical RP.
- Genetic analysis in some patients identified mutations associated with both concentric and typical RP, highlighting the importance of differentiating this from conditions like myotonic dystrophy-associated retinopathy.
Article Abstract
Concentric retinitis pigmentosa (RP), in which retinal degeneration is limited in the periphery, is rare and little information exists to date on the subject. Herein, we describe the clinical and genetic characteristics of this atypical form of RP. We retrospectively reviewed our database and identified 14 patients with concentric RP. Additionally, 14 patients with age-matched typical RP were also included. Patients with concentric RP had better visual acuity (logarithm of minimum angle of resolution -0.04 vs. 0.32, = 0.047) and preserved ellipsoid zones (7630 µm vs. 2646 µm, < 0.001) compared to typical RP. The electroretinogram showed subnormal but recordable responses in patients with concentric RP. Genetic testing was done in nine patients with concentric RP and revealed causative mutations in the gene in one patient and the gene in one patient. Two patients had myotonic dystrophy and the diagnosis was revised as myotonic dystrophy-associated retinopathy. Concentric RP is a rare, atypical form of RP with better visual function. There is some overlap in the causative genes in concentric and typical RP. Myotonic dystrophy-associated retinopathy is an important differential diagnosis.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8004166 | PMC |
| http://dx.doi.org/10.3390/life11030260 | DOI Listing |
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